ASDmales and 63 females) with nonsyndromic autism spectrum disorders (ASD) to assess the diagnostic yield. In addition, we reviewed our hospital's clinical database of 8500 patients who had undergone metabolic testing to be identified for inborn errors of metabolism (IEM), and described the characteristics of those with IEM and nonsyndromic ASD. METHOD Neuropsychological evaluation included the Social Communication Questionnaireand Child Behavior Checklist. For metabolic testing/screening, urine samples were analyzed for the diagnosis of cerebral creatine deficiency syndromes, purine and pyrimidine disorders, amino acid metabolism defects, mucopolysaccharidoses, and organic acidurias. RESULTS The 406 recruited participants fulfilled the Diagnostic and Statistical Manual ofMental Disorders, 4th edition (DSM-IV) criteria of ASD. No biochemical evidence of a metabolic disorder was detected in any of the 406 patients studied. Concerning the retrospective evaluation from the 8500 who had metabolic testing, 464 individuals had a diagnosis of an IEM (394 without the diagnosis of ASD and 70 with ASD diagnosis). Only one individual with IEM had a diagnosis of nonsyndromic ASD at the time of the metabolic study; the metabolic testing had revealed diagnosis of urea-cycle disorder.INTERPRETATION Metabolic testing should be considered in the work-up of individuals with syndromic ASD, but metabolic testing is not cost-effective for individuals with nonsyndromic ASD.Autism is a behavioral disorder characterized by impairments of social interactions and communication, restricted patterns of interests, stereotyped behaviors, and sensory disturbances, according to the new edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5). 1The category previously known as pervasive developmental disorders in the DSM-IV has evolved into a more comprehensive, research-based concept called autism spectrum disorders (ASD), which includes a range of lifelong neurodevelopmental disorders with onset in early childhood that severely affect social behavior and behavioral flexibility. 2 A correct diagnosis of ASD depends on an accurate clinical history with special interest in behavioral, speech, social, and cognitive evaluation by professionals and several autism-specific diagnostic inventories and batteries that can increase diagnostic yield.3,4 ASD occurs in about 1% of the population, 5 but males are almost five times more likely to be identified with ASD than are females. 6 The terms 'nonsyndromic', 'idiopathic', 'simple', and 'essential' autism are used interchangeably to refer to individuals without dysmorphic features or any additional signs or malformations other than those known to be associated with ASD. The terms 'syndromic', 'complex', and 'nonessential' autism are used to describe children with clinical findings additional to ASD and its known associations, such as refractory epilepsy, severe motor deficits, severe neurological deterioration and regression, dysmorphic features, and other extraneurological manifestat...
This paper presents the introduction of a study to compare different treatments within a program of counseling and education directed to parents with a cognitive rehabilitation program aimed at children through robotics. The Essentials of this program are described in detail. The aim is neuropsychological rehabilitation, addressing cognitive, emotional, behavioral and psychosocial deficits caused by brain damage.
This paper describes in detail the robot platform used in a rehabilitation program for children with Traumatic Brain Injury (TBI) under a project to compare a rehabilitation program through robotics (1) with a conventional rehabilitation program directed to parents (2) and a control group where no specific intervention is done (3). As LEGO R has been demonstrated as a useful robotic tool able to enhance children motivation, we have used it attached to an iPod which includes several activities defined by neuropsychologists and customized for each patient. In this paper we present the hardware and the software of this robotic platform and also the description of the activities that have already been proposed to patients. We present results about the use of the robot showing that the drop-out rate is lower in the intervention group with robots than in the program directed to parents.
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